Traits

Traits linked to TMEM70

transmembrane protein 70

The Human Phenotype Ontology links 56 traits to TMEM70, by body system: features seen in people with one of the gene's rare conditions.

TMEM70

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Always
IQ between 34 and 49	Very often (80–99%)
Moderate global developmental delay	Very often (80–99%)
Aplasia/Hypoplasia of the corpus callosum	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Epilepsy	Sometimes (5–29%)
Peripheral nerve disease	Rarely (1–4%)
Ataxia	Not recorded
Encephalopathy	Not recorded
Intention tremor	Not recorded
Leukoencephalopathy	Not recorded
Tremor	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Very often (80–99%)
Short philtrum	Very often (80–99%)
Receding chin	Often (30–79%)
Wide mouth	Often (30–79%)
Flat back of skull	Not recorded
Flat face	Not recorded
Long philtrum	Not recorded
Nasal tip, upturned	Not recorded
Small retruded chin	Not recorded
Wide nasal bridge	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged and thickened heart muscle	Very often (80–99%)
Abnormal aortic valve morphology	Often (30–79%)
Abnormal pulmonary valve morphology	Often (30–79%)
Cardiac failure	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
High blood pressure	Not recorded

Laboratory abnormality

Trait	How often it is seen
Increased lactate in body	Always
3-Methylglutaconic aciduria	Very often (80–99%)
High blood ammonia levels	Very often (80–99%)
Higher than normal levels of lactate in blood	Not recorded
Increased blood alanine	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)
Delayed gastric emptying	Not recorded
Inguinal hernia	Not recorded
Umbilical hernia	Not recorded

Growth abnormality

Trait	How often it is seen
Growth delay	Often (30–79%)
Prenatal growth deficiency	Often (30–79%)
Faltering weight	Not recorded
Small for gestational age	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Hypospadias	Often (30–79%)
Undescended testes	Often (30–79%)
Abnormality of the kidney	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Very often (80–99%)
Flexed joint that cannot be straightened	Often (30–79%)
Generalized decreased muscle tone	Not recorded

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Very often (80–99%)
Premature birth	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Often (30–79%)
Respiratory function loss	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased activity of mitochondrial ATP synthase complex	Always

Abnormality of limbs

Trait	How often it is seen
Permanent flexion of the finger	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Very often (80–99%)

Abnormality of the eye

Trait	How often it is seen
Clouding of the lens of the eye	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Brain inflammation	Very often (80–99%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to TMEM70 and how often each is seen. Find out more at hpo.jax.org.

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